Source: INFERRED

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.200 None 0.700 0 0 2004 2017
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.200 None 1.000 0 0 1986 2019
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
short stature homeobox 0.561 0.654 0.67
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.200 None 1.000 0 0 1997 2019
Entrez Id: 145624
Gene Symbol: PWAR1
PWAR1
Prader Willi/Angelman region RNA 1 0.490 0.769
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.170 None 1.000 0 0 1997 2014
Entrez Id: 8091
Gene Symbol: HMGA2
HMGA2
high mobility group AT-hook 2 0.429 0.808 0.87
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.170 None 1.000 0 0 2009 2018
Entrez Id: 1311
Gene Symbol: COMP
COMP
cartilage oligomeric matrix protein 0.503 0.808 1.3E-09
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.150 None 1.000 0 0 2001 2015
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.150 None 1.000 0 1 2012 2018
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
rotatin 0.619 0.654 9.0E-34
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.150 None 1.000 0 0 2015 2018
Entrez Id: 2693
Gene Symbol: GHSR
GHSR
growth hormone secretagogue receptor 0.528 0.769 6.6E-03
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.150 None 1.000 0 0 2006 2012
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1
POU class 1 homeobox 1 0.548 0.654 4.5E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.150 None 0.800 0 0 1992 2010
Entrez Id: 6777
Gene Symbol: STAT5B
STAT5B
signal transducer and activator of transcription 5B 0.442 0.808 1.00
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.150 None 1.000 0 0 2007 2018
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.140 None 1.000 0 0 2000 2017
Entrez Id: 170691
Gene Symbol: ADAMTS17
ADAMTS17
ADAM metallopeptidase with thrombospondin type 1 motif 17 0.678 0.385 2.8E-15
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.140 None 1.000 0 0 2012 2019
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
GNAS complex locus 0.420 0.885 0.68
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.140 None 0.750 0 0 2003 2018
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
ankyrin repeat domain 11 0.556 0.808 1.00
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.140 None 1.000 0 0 2012 2019
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
NBAS subunit of NRZ tethering complex 0.566 0.692 5.0E-43
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.140 None 1.000 0 0 2010 2017
Entrez Id: 5744
Gene Symbol: PTHLH
PTHLH
parathyroid hormone like hormone 0.453 0.846 0.81
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.140 None 1.000 0 0 1995 2016
Entrez Id: 1801
Gene Symbol: DPH1
DPH1
diphthamide biosynthesis 1 0.653 0.538 8.0E-17
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.130 None 1.000 0 0 2015 2018
Entrez Id: 23592
Gene Symbol: LEMD3
LEMD3
LEM domain containing 3 0.582 0.731 1.00
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.130 None 0.667 0 0 1994 2009
Entrez Id: 3481
Gene Symbol: IGF2
IGF2
insulin like growth factor 2 0.390 0.885 4.4E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.130 None 1.000 0 0 1998 2018
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.130 None 1.000 0 0 2005 2019
Entrez Id: 5000
Gene Symbol: ORC4
ORC4
origin recognition complex subunit 4 0.612 0.654 7.6E-13
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.130 None 1.000 0 0 2012 2017
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
phosphoinositide-3-kinase regulatory subunit 1 0.477 0.885 1.00
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.130 None 1.000 0 0 2017 2018
Entrez Id: 6658
Gene Symbol: SOX3
SOX3
SRY-box transcription factor 3 0.535 0.731 0.45
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.130 None 1.000 0 0 2001 2015
Entrez Id: 7421
Gene Symbol: VDR
VDR
vitamin D receptor 0.352 0.885 1.7E-05
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.130 None 1.000 0 0 2006 2015